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Volker Straub

Showing results (91-100 of 374) with videos related to

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European Journal of Human Genetics : EJHG|February 11, 2016
Improving the informed consent process in international collaborative rare disease research: effective consent for effective researchSabina Gainotti, Cathy Turner, Simon Woods, et al.
Molecular Genetics and Metabolism Reports|July 22, 2024
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trialsTahseen Mozaffar, Lionel Riou França, Jérôme Msihid, et al.
Neuromuscular Disorders : NMD|December 4, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiencyCarola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
Neuromuscular Disorders : NMD|July 2, 2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stutteringJorge Alonso-Pérez, Ana Casasús, Álvaro Gimenez-Muñoz, et al.
Cardiovascular Research|February 17, 2009
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectorsCaroline Goehringer, Désirée Rutschow, Ralf Bauer, et al.
Brain Imaging and Behavior|January 3, 2021
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patientsNathalie Doorenweerd, Mischa de Rover, Chiara Marini-Bettolo, et al.
Human Mutation|May 24, 2022
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophyJosefine D S Borch, Thomas Krag, Sonja D Holm-Yildiz, et al.
Neuromuscular Disorders : NMD|January 22, 2026
Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophyMatthew G Birkbeck, Ian S Schofield, Ian Wilson, et al.
Brain : a Journal of Neurology|December 7, 2007
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2AEmma J Groen, Richard Charlton, Rita Barresi, et al.
Pageof 38

Showing results (91-100 of 374) with videos related to

Sort By:
Pageof 38
European Journal of Human Genetics : EJHG|February 11, 2016
Improving the informed consent process in international collaborative rare disease research: effective consent for effective researchSabina Gainotti, Cathy Turner, Simon Woods, et al.
Molecular Genetics and Metabolism Reports|July 22, 2024
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trialsTahseen Mozaffar, Lionel Riou França, Jérôme Msihid, et al.
Neuromuscular Disorders : NMD|December 4, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiencyCarola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
Neuromuscular Disorders : NMD|July 2, 2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stutteringJorge Alonso-Pérez, Ana Casasús, Álvaro Gimenez-Muñoz, et al.
Cardiovascular Research|February 17, 2009
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectorsCaroline Goehringer, Désirée Rutschow, Ralf Bauer, et al.
Brain Imaging and Behavior|January 3, 2021
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patientsNathalie Doorenweerd, Mischa de Rover, Chiara Marini-Bettolo, et al.
Human Mutation|May 24, 2022
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophyJosefine D S Borch, Thomas Krag, Sonja D Holm-Yildiz, et al.
Neuromuscular Disorders : NMD|January 22, 2026
Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophyMatthew G Birkbeck, Ian S Schofield, Ian Wilson, et al.
Brain : a Journal of Neurology|December 7, 2007
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2AEmma J Groen, Richard Charlton, Rita Barresi, et al.
Pageof 38